Results for "Variation"

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  • Genome STRiP

    Genome STRiP (Genome STRucture In Populations) is a suite of tools for discovering and genotyping structural variations using sequencing data. The methods are designed to detect shared variation using data from multiple individuals.Genome STRiP looks both across and within a set of sequenced...

    Tags: Bioinformatics, Analysis, NGS, Genome STRiP, Genome, Variation

    2761 days ago

  • LUMPY

    A probabilistic framework for structural variant discovery. Ryan M Layer, Colby Chiang, Aaron R Quinlan, and Ira M Hall. 2014. "LUMPY: a Probabilistic Framework for Structural Variant Discovery." Genome Biology 15 (6): R84. doi:10.1186/gb-2014-15-6-r84. More at https://github.com/arq5...

    Tags: Bioinformatics, Analysis, NGS, Lumpy, SV, Variation, Structure, Genome

    2773 days ago

  • Maq: Mapping and Assembly with Quality

    Maq stands for Mapping and Assembly with Quality It builds assembly by mapping short reads to reference sequences. Maq is a project hosted by SourceForge.net. The project page is available athttp://sourceforge.net/projects/maq/. Maq is previously known as mapass2. Run Maq Now...

    Tags: Bioinformatics, Maq, Variation, Mapping, Quality, Reads, SV, NGS, Genome

    2684 days ago

  • Interesting plotting https://genomebiology.biomedcentral.com/articles/10.1186/s13059-015-0678-1 #Plot #Structure #Variation #Cotton

    Tags: Plot, Structure, Variation, Cotton

    2657 days ago

  • SeqMule: Automated human exome/genome variants detection

    SeqMule takes single-end or paird-end FASTQ or BAM files, generates a script consisting of more than 10 popular alignment, analysis tools and runs the script line by line. Users can change the pipeline or fine-tune the parameters by modifying its configuration file. SeqMule also has some built-in...

    Tags: Bioinformatics, Analysis, Assembly, Genome, SeqMule, Exome, Structure, Variation

    2579 days ago

  • Software and Tools to detect structure variation with long reads !!

    Uncovering the connection between genetics and heritable diseases requires an approach that looks at all the variant bases and types in a genome. While a PacBio de novo assembly resolves the most novel SV variants. 8-10X PacBio coverage of single genomes or trios reveals triple the SVs ...

    Tags: Bioinformatics, LR, Long, Reads, Tools, Software, Pacbio, Genome, DNA, Sequence, NGS, SV, Variation, Structure

    2571 days ago

  • Ensembl Variation - Calculated variant consequences

    For each variant that is mapped to the reference genome, we identify all overlapping Ensembl transcripts. We then use a rule-based approach to predict the effects that each allele of the variant may have on each transcript. The set of consequence terms, defined by the Sequence Ontology ...

    Tags: Ensembl, Variation, Calculated, variant, consequences, Variant, Effect, Predictor

    2028 days ago

  • The aim of this program suite is to support checks of #Sequence #Variant #Nomenclature according to the guidelines of the #Human #Genome #Variation Society. https://www.mutalyzer.nl/

    Tags: Sequence, Variant, Nomenclature, Human, Genome, Variation

    1883 days ago